| | | Single nucleotide variant (missense variant) | not specified | |
| | | Deletion | Dilated Cardiomyopathy, Dominant | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | LOC130058832, ZNF771 (L190V) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | LOC130058831, ZNF771 (A52G) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | LOC130058831, ZNF771 (R61L) | Single nucleotide variant (missense variant) | not specified | |
| | LOC130058831, ZNF771 (G50D) | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Copy number gain | not provided | |
| | | Copy number gain | Chromosome 16p11.2 duplication syndrome | |
| | | Copy number loss | Distal 16p11.2 microdeletion syndrome | |
| | | Copy number gain | not provided | |
| | | Copy number gain | Microcephaly | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Complex | Hemimegalencephaly | |
| | | Copy number gain | Breast ductal adenocarcinoma | |
| | | Copy number gain | Breast ductal adenocarcinoma | |
| | | Copy number gain | See cases | |
| | LOC130058732, LOC130058733 +504 more | Copy number gain | See cases | |
| | ZNF747, ZNF747-DT +378 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC130058889, LOC130058890 +207 more | Copy number gain | See cases | |
| | CD2BP2-DT, DCTPP1 +46 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |